Harmonizome 3.0

retinol binding protein 3, interstitial

Interphotoreceptor retinol-binding protein is a large glycoprotein known to bind retinoids and found primarily in the interphotoreceptor matrix of the retina between the retinal pigment epithelium and the photoreceptor cells. It is thought to transport retinoids between the retinal pigment epithelium and the photoreceptors, a critical role in the visual process.The human IRBP gene is approximately 9.5 kbp in length and consists of four exons separated by three introns. The introns are 1.6-1.9 kbp long. The gene is transcribed by photoreceptor and retinoblastoma cells into an approximately 4.3-kilobase mRNA that is translated and processed into a glycosylated protein of 135,000 Da. The amino acid sequence of human IRBP can be divided into four contiguous homology domains with 33-38% identity, suggesting a series of gene duplication events. In the gene, the boundaries of these domains are not defined by exon-intron junctions, as might have been expected. The first three homology domains and part of the fourth are all encoded by the first large exon, which is 3,180 base pairs long. The remainder of the fourth domain is encoded in the last three exons, which are 191, 143, and approximately 740 base pairs long, respectively. [provided by RefSeq, Jul 2008]

interstitial pneumonitis, desquamative, familial

Epilepsy, idiopathic generalized, susceptibility to 4

nephrosis 2, idiopathic, steroid-resistant (podocin)

This gene encodes a protein that plays a role in the regulation of glomerular permeability. Mutations in this gene cause steroid-resistant nephrotic syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

Epilepsy, idiopathic generalized, susceptibility to 3

Epilepsy, idiopathic generalized, susceptibility to 2

Epilepsy, idiopathic generalized, susceptibility to, 5

Intestinal pseudoobstruction, neuronal, primary idiopathic

Scoliosis, idiopathic 2

Adolescent idiopathic scoliosis

scoliosis, idiopathic, susceptibility to, 5

Scoliosis, idiopathic, susceptibility to, 4

idiopathic basal ganglia calcification 1

Basal ganglia calcification, idiopathic, 2

epilepsy, generalized, idiopathic